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GENATLAS PHENOTYPE
last update : 26/03/2008
Symbol ETFA
Location 15q24.2
Name glutaric aciduria IIA
Other name(s) multiple acyl -CoA dehydrogenase deficiency
Corresponding gene ETFA
related resource MITOP database
Other symbol(s) MADD
Main clinical features
  • type 1 : early onset, fatal neonatal acidosis and hypoketotic hypoglycemia, hyperammonemia with a strong 'sweaty feet' vomiting, hypoglycaemia, and acidosis, episodes of muscular weakness in adulthood, with progressive lipid storage disease
    • Genetic determination autosomal recessive
    Prevalence odor, hypotonia, hepatomegaly and large amounts of glutaric acid in the blood and urine, risk of sudden death and cardiomyopath
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name electron transfer flavoprotein, alpha, 32kD (ETFA)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function T266M, mostly frequent
    Remark(s)